| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2527977G>C | CA379121473 | KCNQ1 | c.175G>C (p.Glu59Gln) c.436G>C (p.Glu146Gln) c.55G>C (p.Glu19Gln) c.82G>C (p.Glu28Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2527977G>A | CA007090 | KCNQ1 | c.175G>A (p.Glu59Lys) c.436G>A (p.Glu146Lys) c.55G>A (p.Glu19Lys) c.82G>A (p.Glu28Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.2527977G= | CA1948196764 | KCNQ1 | c.175G= (p.Glu59=) c.436G= (p.Glu146=) c.55G= (p.Glu19=) c.82G= (p.Glu28=) | dbSNP |